K126E (p.Lys126Glu) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
K126E (p.Lys126Glu) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
K126E (p.Lys126Glu) variant details
- p.Lys126Glu
- rs2511829849
- ClinGen CA398751687
- ClinVar RCV003129231
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available